Mutagenetix > Incidental Mutation

Incidental Mutation 'R6032:Ifnlr1'

486316

Institutional Source

Beutler Lab

Gene Symbol

Ifnlr1

Ensembl Gene

ENSMUSG00000062157

Gene Name

interferon lambda receptor 1

Synonyms

IFNLR1, Il28ra, CRF2-12

MMRRC Submission

044204-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6032 (G1)

Quality Score

141.008

Status

Validated

Chromosome

Chromosomal Location

135413598-135435492 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135432937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 458 (K458E)

Ref Sequence

ENSEMBL: ENSMUSP00000074009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074408]

AlphaFold

Q8CGK5

Predicted Effect

probably benign
Transcript: ENSMUST00000074408
AA Change: K458E

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000074009
Gene: ENSMUSG00000062157
AA Change: K458E

Domain	Start	End	E-Value	Type
low complexity region	10	15	N/A	INTRINSIC
FN3	24	108	7.75e0	SMART
transmembrane domain	226	248	N/A	INTRINSIC
low complexity region	320	337	N/A	INTRINSIC
low complexity region	376	397	N/A	INTRINSIC
low complexity region	482	505	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the class II cytokine receptor family. This protein forms a receptor complex with interleukine 10 receptor, beta (IL10RB). The receptor complex has been shown to interact with three closely related cytokines, including interleukin 28A (IL28A), interleukin 28B (IL28B), and interleukin 29 (IL29). The expression of all three cytokines can be induced by viral infection. The cells overexpressing this protein have been found to have enhanced responses to IL28A and IL29, but decreased response to IL28B. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and normal with respect to viral infection, however antiviral response evoked by TLRs are significantly reduced. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
A2ml1	T	A	6: 128,526,799 (GRCm39)	K1071*	probably null	Het
Abca13	G	T	11: 9,247,752 (GRCm39)	V2500F	possibly damaging	Het
Adamdec1	T	C	14: 68,816,633 (GRCm39)	E85G	probably damaging	Het
Aldh8a1	T	C	10: 21,264,970 (GRCm39)	V199A	probably benign	Het
Aoc2	G	A	11: 101,216,627 (GRCm39)	V237M	probably damaging	Het
Aplp2	C	T	9: 31,062,240 (GRCm39)	R672H	probably damaging	Het
Apob	A	G	12: 8,045,513 (GRCm39)	N886S	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Atp6v1a	T	C	16: 43,927,303 (GRCm39)	Y328C	probably damaging	Het
Bag4	T	C	8: 26,267,521 (GRCm39)	Y103C	probably damaging	Het
Crem	C	T	18: 3,267,673 (GRCm39)	R190Q	probably damaging	Het
Crybg1	A	G	10: 43,832,756 (GRCm39)	S2000P	probably damaging	Het
Cubn	T	A	2: 13,329,995 (GRCm39)	T2629S	probably benign	Het
Cyp3a44	G	T	5: 145,714,756 (GRCm39)	S465Y	probably damaging	Het
Daam2	A	C	17: 49,793,525 (GRCm39)	F331V	probably damaging	Het
Dnajc3	T	C	14: 119,205,443 (GRCm39)	S146P	possibly damaging	Het
Dscam	A	G	16: 96,451,191 (GRCm39)		probably null	Het
Fam184b	G	A	5: 45,740,238 (GRCm39)	S316L	probably benign	Het
Fat2	G	C	11: 55,144,760 (GRCm39)	T4038S	probably damaging	Het
Fbxl19	C	T	7: 127,360,437 (GRCm39)	R439C	probably damaging	Het
Gm3454	T	A	15: 75,183,448 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,617 (GRCm39)	E284G	probably benign	Het
Grm1	A	T	10: 10,595,549 (GRCm39)	I693N	probably damaging	Het
Gsdme	T	A	6: 50,222,934 (GRCm39)	Q127L	probably damaging	Het
Kcns2	T	C	15: 34,839,080 (GRCm39)	F148L	probably benign	Het
Lama1	A	G	17: 68,057,638 (GRCm39)	T571A	probably benign	Het
Loxhd1	G	A	18: 77,469,254 (GRCm39)	V108M	probably damaging	Het
Mef2c	A	T	13: 83,810,478 (GRCm39)	T375S	probably benign	Het
Ncor1	A	T	11: 62,264,147 (GRCm39)	D144E	possibly damaging	Het
Nos3	A	T	5: 24,584,809 (GRCm39)	T738S	probably benign	Het
Nrxn2	A	T	19: 6,567,162 (GRCm39)	T1353S	probably damaging	Het
Or2b7	G	T	13: 21,740,077 (GRCm39)	S38R	probably benign	Het
Or4f4b	T	C	2: 111,314,195 (GRCm39)	L140P	probably damaging	Het
Or8g17	A	G	9: 38,930,261 (GRCm39)	I192T	probably benign	Het
Pfpl	A	G	19: 12,406,747 (GRCm39)	T333A	probably damaging	Het
Postn	A	T	3: 54,284,137 (GRCm39)	I565F	possibly damaging	Het
Ppef2	A	G	5: 92,378,383 (GRCm39)	V604A	probably benign	Het
Pramel13	A	C	4: 144,119,598 (GRCm39)	I323S	possibly damaging	Het
Prmt1	A	G	7: 44,626,526 (GRCm39)		probably null	Het
Rel	A	G	11: 23,692,684 (GRCm39)	S450P	probably benign	Het
Rpap2	A	C	5: 107,745,661 (GRCm39)	D3A	probably damaging	Het
Shisa9	T	C	16: 11,802,772 (GRCm39)	F110L	possibly damaging	Het
Slc25a10	A	T	11: 120,385,784 (GRCm39)		probably null	Het
Slx4	A	T	16: 3,798,021 (GRCm39)	F1454L	probably damaging	Het
Smc1b	A	T	15: 84,950,430 (GRCm39)	V1198D	possibly damaging	Het
Supt5	T	C	7: 28,015,600 (GRCm39)	Y879C	probably damaging	Het
Tbx15	T	C	3: 99,259,833 (GRCm39)	M568T	probably benign	Het
Tle4	T	C	19: 14,429,472 (GRCm39)	H698R	possibly damaging	Het
Trappc9	T	C	15: 72,797,379 (GRCm39)	N803D	probably benign	Het
Trim10	A	T	17: 37,182,606 (GRCm39)	R157S	possibly damaging	Het
Wsb1	T	C	11: 79,131,025 (GRCm39)		probably benign	Het
Zfp106	T	C	2: 120,365,874 (GRCm39)	S178G	probably benign	Het
Zftraf1	C	T	15: 76,543,058 (GRCm39)	R34Q	probably damaging	Het

Other mutations in Ifnlr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Ifnlr1	APN	4	135,431,596 (GRCm39)	missense	probably benign	0.28
IGL01637:Ifnlr1	APN	4	135,413,856 (GRCm39)	missense	possibly damaging	0.63
IGL02090:Ifnlr1	APN	4	135,432,578 (GRCm39)	missense	probably benign	0.23
R0677:Ifnlr1	UTSW	4	135,432,945 (GRCm39)	missense	possibly damaging	0.78
R0723:Ifnlr1	UTSW	4	135,428,524 (GRCm39)	splice site	probably benign
R0762:Ifnlr1	UTSW	4	135,428,640 (GRCm39)	missense	possibly damaging	0.90
R1169:Ifnlr1	UTSW	4	135,432,419 (GRCm39)	missense	probably benign	0.00
R1303:Ifnlr1	UTSW	4	135,431,528 (GRCm39)	missense	possibly damaging	0.67
R1819:Ifnlr1	UTSW	4	135,413,834 (GRCm39)	start gained	probably benign
R1957:Ifnlr1	UTSW	4	135,413,881 (GRCm39)	missense	probably damaging	1.00
R2041:Ifnlr1	UTSW	4	135,433,148 (GRCm39)	missense	possibly damaging	0.51
R2509:Ifnlr1	UTSW	4	135,432,559 (GRCm39)	missense	probably damaging	1.00
R2510:Ifnlr1	UTSW	4	135,432,559 (GRCm39)	missense	probably damaging	1.00
R2511:Ifnlr1	UTSW	4	135,432,559 (GRCm39)	missense	probably damaging	1.00
R3020:Ifnlr1	UTSW	4	135,433,041 (GRCm39)	small deletion	probably benign
R3944:Ifnlr1	UTSW	4	135,428,539 (GRCm39)	missense	probably damaging	1.00
R4495:Ifnlr1	UTSW	4	135,433,079 (GRCm39)	missense	probably damaging	0.98
R4804:Ifnlr1	UTSW	4	135,432,647 (GRCm39)	missense	possibly damaging	0.50
R4938:Ifnlr1	UTSW	4	135,432,593 (GRCm39)	missense	probably benign	0.35
R5070:Ifnlr1	UTSW	4	135,431,509 (GRCm39)	missense	probably benign	0.00
R5073:Ifnlr1	UTSW	4	135,432,457 (GRCm39)	missense	probably benign	0.06
R5493:Ifnlr1	UTSW	4	135,432,877 (GRCm39)	missense	probably benign	0.25
R5913:Ifnlr1	UTSW	4	135,432,581 (GRCm39)	missense	probably damaging	1.00
R5913:Ifnlr1	UTSW	4	135,432,580 (GRCm39)	missense	probably damaging	1.00
R5959:Ifnlr1	UTSW	4	135,432,652 (GRCm39)	missense	possibly damaging	0.94
R6032:Ifnlr1	UTSW	4	135,432,937 (GRCm39)	missense	probably benign	0.03
R6136:Ifnlr1	UTSW	4	135,431,108 (GRCm39)	missense	possibly damaging	0.92
R7018:Ifnlr1	UTSW	4	135,431,135 (GRCm39)	missense	possibly damaging	0.77
R7651:Ifnlr1	UTSW	4	135,417,919 (GRCm39)	missense	possibly damaging	0.66
R8945:Ifnlr1	UTSW	4	135,431,609 (GRCm39)	missense	probably damaging	1.00
R8976:Ifnlr1	UTSW	4	135,428,650 (GRCm39)	missense	probably damaging	1.00
R9188:Ifnlr1	UTSW	4	135,426,171 (GRCm39)	missense	probably damaging	1.00
R9427:Ifnlr1	UTSW	4	135,426,142 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGATGAAGTTGGGTCTTCC -3'
(R):5'- AAGTAATCTCCCAGCATCCG -3'

Sequencing Primer
(F):5'- CTTCCAGCTGTTTGGACCGAAAG -3'
(R):5'- GTCCTCTGCACGCTTGAAGTG -3'

Posted On

2017-08-16